Table 1 Genetic causes of Parkinson’s disease
Gene | PARK loci | Chromosome | Form of PD | Mutations and their origin | Refs. |
|---|---|---|---|---|---|
SNCA | PARK 1 | 4q21 | Autosomal dominant | A30P (Germany), E46K (Spain), A53T (Greece, Italia, Sweden, Australia, Korea), A18T (Poland), A29S (Poland), E46K (Spain) H50Q (UK), G51D (France) | |
Parkin | PARK 2 | 6q25.2–q27 | Autosomal recessive, juvenile | Various mutations, exonic deletions, dupli/triplications (Japan) | |
Unknown | PARK 3 | 2p13 | Autosomal dominant | Europe | [241] |
SNCA | PARK 4 | 4q21 | Autosomal dominant | Duplication and triplication USA | [242] |
UCHL1 | PARK 5 | 4p14 | Autosomal dominant, idiopathic | I93M and S18Y (Germany) | |
PINK1 | PARK 6 | 1p35–p36 | Autosomal recessive | G309D, exonic deletions (Italy) | [244] |
DJ-1 | PARK 7 | 1p36 | Autosomal recessive, early onset | Homozygous exon, deletion L166P (Europe) | |
LRRK2 | PARK 8 | 12q12 | Autosomal dominant, idiopathic | R1441C ⁄ G ⁄ H, Y1699C G2019S, I2020T, G2385R (Japan) | |
ATP13A2 | PARK 9 | 1p36 | Kufor–Rakeb syndrome, early onset | Loss-of-function mutations (Jordan, Italy, Brazil) | |
Unknown | PARK 10 | 1p32 | Idiopathic | (Iceland) | [255] |
Unknown | PARK 11 | 2q36–q37 | Autosomal dominant, idiopathic | (USA) | [256] |
Unknown | PARK 12 | X | Familial | (USA) | [257] |
HTRA2 | PARK 13 | 2p13 | Idiopathic | A141S, G399S (Germany) | |
MAPT | MAPT | 17q21.31 | Familial | 79 of Ser/Thr of tau (tauopathies) (Asian, USA) | |
Glucocerebrosidase-1 | GBA-1 | 1q21 | Recessive | Lysosomal storage disorders (USA) | |
Other genes | TMEM, IF4G1E, GRIN2A, GSTP1, TNF-alfa, COX-2, SLC6A3, ADH1C rs356219, SREBF1 and SREBF2, COMT HLA-DRB5, BST1, GAK, ACMSD, STK39, MCCC1, SYT1, CCDC62/HIP1R [262] | ||||